166848111 G/A: c.5674C>T: p.Arg1892*: Truncation

Reference genomes Human GRCh37/hg19
Genomic position 166848111
Ref/Alt G/A
Genbank transcript ID NM_001165963.1
cds change c.5674C>T
cds alteration type Nonsense
Zygosis Heterozygous
AA change p.Arg1892*
AA alteration type Truncation
Detection methods PCR-Sanger, MLPA, DHPLC
Known variant Known
Reference ID rs794726739
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon26
Protein Domain C-terminus
Inheritance De novo
Variant Classification Pathogenic
Clinical diagnosis SMEI
Gender Male
Ethnogenesis Italian
Family history Negative
Age of seizure onset 8 months old
Short descriptions for Cases
References Nicita, Francesco, et al. "Genotype-phenotype correlations in a group of 15 SCN1A-mutated Italian patients with GEFS+ spectrum (seizures plus, classical and borderline severe myoclonic epilepsy of infancy)." Journal of child neurology 25.11 (2010): 1369-1376.
co-existing variant(s)